ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA916030963
Gene: ABCC8
HGNC
NCBI
Linked Data
ClinVar Variation Id:
556519
ClinVar RCV Id:
RCV000672538
RCV000710392
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338224.1:p.Ala1558Val
CA5902421
NM_001351295.2:c.4673C>T